Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178559019_178559778delinsCTGTGTATATATATATATAAACATGTATACCTACATATATATACAGTTAGATTCAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAAGGGTGTGAACCCAAAAGCATTTAAGATGAAATAACGACTAATTAGAATGACTCACACTATTCTAGCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGATAGCTCCTTCTTGTAAATTGGTAACTTTGTAGGAGAGGCGGTTACAGTTGTTGGTCACAGAGACCCATGCTTTCTTGCTGGCCTCACGTTTTTCTATGTGGTAATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACATCA1310526456TTN,TTN-AS1c.78650_79117+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59735_60202+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59534_60001+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59159_59626+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.86354_86821+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.81431_81898+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
n.447-12281_447-11522delinsCTGTGTATATATATATATAAACATGTATACCTACATATATATACAGTTAGATTCAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAAGGGTGTGAACCCAAAAGCATTTAAGATGAAATAACGACTAATTAGAATGACTCACACTATTCTAGCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGATAGCTCCTTCTTGTAAATTGGTAACTTTGTAGGAGAGGCGGTTACAGTTGTTGGTCACAGAGACCCATGCTTTCTTGCTGGCCTCACGTTTTTCTATGTGGTAATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACAT
n.2043+16658_2043+17417delinsCTGTGTATATATATATATAAACATGTATACCTACATATATATACAGTTAGATTCAATAATACTTAAATTCAACATATATTATCCAATTTTAGCTACGTAAATTTCTGTTTTTTTAATCAATGAAAGACTCTTCACTAGAGATTCCATTTTGTGCCATAGTATGAATAGTTTGGGGTGTGAAGGGTGTGAACCCAAAAGCATTTAAGATGAAATAACGACTAATTAGAATGACTCACACTATTCTAGCAAAATTAACGTGGATATGTAGAATTTCCTTATTCTTAAAACATACCTGTTATTTTTACTCCTTCCTTTGTTTCAGCTGGTATACCAACACCAAACTCATTTTCTCCAGAGACTCTGAAGTAATAGATAGCTCCTTCTTGTAAATTGGTAACTTTGTAGGAGAGGCGGTTACAGTTGTTGGTCACAGAGACCCATGCTTTCTTGCTGGCCTCACGTTTTTCTATGTGGTAATTCTTCACTGGTGCTCCACCATCGTTTTCAGGAACATCCCAGGATAACACTGCAGACTCTTTGGTTACATCTTGCACAGTAATGTTGGTTGGAGGACCTGGGGTATCTAAAACTTTGACAACTAAGGTCAGTGAAGCAGCACTCAAAACATTCTGAATTGTTAATGTGTACTTTCCAGAGTCATTTCTGTTGGCATTTTCAATGGTCAGTGATGTACGAGAGTCTGTGGTATCAACATAAGCTCTAGTACGGAGGTCAGTGTCTGGCTTACTCCACAAGACAT
c.85451_85918+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59345_59812+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59204_59671+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.85247_85714+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.80645_81112+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.80642_81109+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.77684_78151+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59300_59767+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.80795_81262+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.80792_81259+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.80225_80692+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.77567_78034+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.77486_77953+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.59249_59716+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
c.49103_49570+292delinsATGTCTTGTGGAGTAAGCCAGACACTGACCTCCGTACTAGAGCTTATGTTGATACCACAGACTCTCGTACATCACTGACCATTGAAAATGCCAACAGAAATGACTCTGGAAAGTACACATTAACAATTCAGAATGTTTTGAGTGCTGCTTCACTGACCTTAGTTGTCAAAGTTTTAGATACCCCAGGTCCTCCAACCAACATTACTGTGCAAGATGTAACCAAAGAGTCTGCAGTGTTATCCTGGGATGTTCCTGAAAACGATGGTGGAGCACCAGTGAAGAATTACCACATAGAAAAACGTGAGGCCAGCAAGAAAGCATGGGTCTCTGTGACCAACAACTGTAACCGCCTCTCCTACAAAGTTACCAATTTACAAGAAGGAGCTATCTATTACTTCAGAGTCTCTGGAGAAAATGAGTTTGGTGTTGGTATACCAGCTGAAACAAAGGAAGGAGTAAAAATAACAGGTATGTTTTAAGAATAAGGAAATTCTACATATCCACGTTAATTTTGCTAGAATAGTGTGAGTCATTCTAATTAGTCGTTATTTCATCTTAAATGCTTTTGGGTTCACACCCTTCACACCCCAAACTATTCATACTATGGCACAAAATGGAATCTCTAGTGAAGAGTCTTTCATTGATTAAAAAAACAGAAATTTACGTAGCTAAAATTGGATAATATATGTTGAATTTAAGTATTATTGAATCTAACTGTATATATATGTAGGTATACATGTTTATATATATATATACACAG
2g.178559022_178559780delCA891843230TTN,TTN-AS1c.78650_79117+291del
c.59735_60202+291del
c.59534_60001+291del
c.59159_59626+291del
c.86354_86821+291del
c.81431_81898+291del
n.447-12278_447-11520del
n.2043+16661_2043+17419del
c.85451_85918+291del
c.59345_59812+291del
c.59204_59671+291del
c.85247_85714+291del
c.80645_81112+291del
c.80642_81109+291del
c.77684_78151+291del
c.59300_59767+291del
c.80795_81262+291del
c.80792_81259+291del
c.80225_80692+291del
c.77567_78034+291del
c.77486_77953+291del
c.59249_59716+291del
c.49103_49570+291del
 ClinVar dbSNP
2g.178559729A>CCA430248094TTN,TTN-AS1c.78699T>G (p.Val26233=)
c.59784T>G (p.Val19928=)
c.59583T>G (p.Val19861=)
c.59208T>G (p.Val19736=)
c.86403T>G (p.Val28801=)
c.81480T>G (p.Val27160=)
n.447-11571A>C
n.2043+17368A>C
c.85500T>G (p.Val28500=)
c.59394T>G (p.Val19798=)
c.59253T>G (p.Val19751=)
c.85296T>G (p.Val28432=)
c.80694T>G (p.Val26898=)
c.80691T>G (p.Val26897=)
c.77733T>G (p.Val25911=)
c.59349T>G (p.Val19783=)
c.80844T>G (p.Val26948=)
c.80841T>G (p.Val26947=)
c.80274T>G (p.Val26758=)
c.77616T>G (p.Val25872=)
c.77535T>G (p.Val25845=)
c.59298T>G (p.Val19766=)
c.49152T>G (p.Val16384=)
2g.178559729A>GCA430248096TTN,TTN-AS1c.78699T>C (p.Val26233=)
c.59784T>C (p.Val19928=)
c.59583T>C (p.Val19861=)
c.59208T>C (p.Val19736=)
c.86403T>C (p.Val28801=)
c.81480T>C (p.Val27160=)
n.447-11571A>G
n.2043+17368A>G
c.85500T>C (p.Val28500=)
c.59394T>C (p.Val19798=)
c.59253T>C (p.Val19751=)
c.85296T>C (p.Val28432=)
c.80694T>C (p.Val26898=)
c.80691T>C (p.Val26897=)
c.77733T>C (p.Val25911=)
c.59349T>C (p.Val19783=)
c.80844T>C (p.Val26948=)
c.80841T>C (p.Val26947=)
c.80274T>C (p.Val26758=)
c.77616T>C (p.Val25872=)
c.77535T>C (p.Val25845=)
c.59298T>C (p.Val19766=)
c.49152T>C (p.Val16384=)
2g.178559729A>TCA430248097TTN,TTN-AS1c.78699T>A (p.Val26233=)
c.59784T>A (p.Val19928=)
c.59583T>A (p.Val19861=)
c.59208T>A (p.Val19736=)
c.86403T>A (p.Val28801=)
c.81480T>A (p.Val27160=)
n.447-11571A>T
n.2043+17368A>T
c.85500T>A (p.Val28500=)
c.59394T>A (p.Val19798=)
c.59253T>A (p.Val19751=)
c.85296T>A (p.Val28432=)
c.80694T>A (p.Val26898=)
c.80691T>A (p.Val26897=)
c.77733T>A (p.Val25911=)
c.59349T>A (p.Val19783=)
c.80844T>A (p.Val26948=)
c.80841T>A (p.Val26947=)
c.80274T>A (p.Val26758=)
c.77616T>A (p.Val25872=)
c.77535T>A (p.Val25845=)
c.59298T>A (p.Val19766=)
c.49152T>A (p.Val16384=)
2g.178559731_178559735delCA2580064841TTN,TTN-AS1c.78695_78699del (p.Tyr26232Ter)
c.59780_59784del (p.Tyr19927Ter)
c.59579_59583del (p.Tyr19860Ter)
c.59204_59208del (p.Tyr19735Ter)
c.86399_86403del (p.Tyr28800Ter)
c.81476_81480del (p.Tyr27159Ter)
n.447-11569_447-11565del
n.2043+17370_2043+17374del
c.85496_85500del (p.Tyr28499Ter)
c.59390_59394del (p.Tyr19797Ter)
c.59249_59253del (p.Tyr19750Ter)
c.85292_85296del (p.Tyr28431Ter)
c.80690_80694del (p.Tyr26897Ter)
c.80687_80691del (p.Tyr26896Ter)
c.77729_77733del (p.Tyr25910Ter)
c.59345_59349del (p.Tyr19782Ter)
c.80840_80844del (p.Tyr26947Ter)
c.80837_80841del (p.Tyr26946Ter)
c.80270_80274del (p.Tyr26757Ter)
c.77612_77616del (p.Tyr25871Ter)
c.77531_77535del (p.Tyr25844Ter)
c.59294_59298del (p.Tyr19765Ter)
c.49148_49152del (p.Tyr16383Ter)
 ClinVar
2g.178559730A=CA1310526759TTN,TTN-AS1c.78698T= (p.Val26233=)
c.59783T= (p.Val19928=)
c.59582T= (p.Val19861=)
c.59207T= (p.Val19736=)
c.86402T= (p.Val28801=)
c.81479T= (p.Val27160=)
n.447-11570A=
n.2043+17369A=
c.85499T= (p.Val28500=)
c.59393T= (p.Val19798=)
c.59252T= (p.Val19751=)
c.85295T= (p.Val28432=)
c.80693T= (p.Val26898=)
c.80690T= (p.Val26897=)
c.77732T= (p.Val25911=)
c.59348T= (p.Val19783=)
c.80843T= (p.Val26948=)
c.80840T= (p.Val26947=)
c.80273T= (p.Val26758=)
c.77615T= (p.Val25872=)
c.77534T= (p.Val25845=)
c.59297T= (p.Val19766=)
c.49151T= (p.Val16384=)
2g.178559730A>CCA349544028TTN,TTN-AS1c.78698T>G (p.Val26233Gly)
c.59783T>G (p.Val19928Gly)
c.59582T>G (p.Val19861Gly)
c.59207T>G (p.Val19736Gly)
c.86402T>G (p.Val28801Gly)
c.81479T>G (p.Val27160Gly)
n.447-11570A>C
n.2043+17369A>C
c.85499T>G (p.Val28500Gly)
c.59393T>G (p.Val19798Gly)
c.59252T>G (p.Val19751Gly)
c.85295T>G (p.Val28432Gly)
c.80693T>G (p.Val26898Gly)
c.80690T>G (p.Val26897Gly)
c.77732T>G (p.Val25911Gly)
c.59348T>G (p.Val19783Gly)
c.80843T>G (p.Val26948Gly)
c.80840T>G (p.Val26947Gly)
c.80273T>G (p.Val26758Gly)
c.77615T>G (p.Val25872Gly)
c.77534T>G (p.Val25845Gly)
c.59297T>G (p.Val19766Gly)
c.49151T>G (p.Val16384Gly)
2g.178559730A>GCA60983918TTN,TTN-AS1c.78698T>C (p.Val26233Ala)
c.59783T>C (p.Val19928Ala)
c.59582T>C (p.Val19861Ala)
c.59207T>C (p.Val19736Ala)
c.86402T>C (p.Val28801Ala)
c.81479T>C (p.Val27160Ala)
n.447-11570A>G
n.2043+17369A>G
c.85499T>C (p.Val28500Ala)
c.59393T>C (p.Val19798Ala)
c.59252T>C (p.Val19751Ala)
c.85295T>C (p.Val28432Ala)
c.80693T>C (p.Val26898Ala)
c.80690T>C (p.Val26897Ala)
c.77732T>C (p.Val25911Ala)
c.59348T>C (p.Val19783Ala)
c.80843T>C (p.Val26948Ala)
c.80840T>C (p.Val26947Ala)
c.80273T>C (p.Val26758Ala)
c.77615T>C (p.Val25872Ala)
c.77534T>C (p.Val25845Ala)
c.59297T>C (p.Val19766Ala)
c.49151T>C (p.Val16384Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178559730A>TCA349544033TTN,TTN-AS1c.78698T>A (p.Val26233Asp)
c.59783T>A (p.Val19928Asp)
c.59582T>A (p.Val19861Asp)
c.59207T>A (p.Val19736Asp)
c.86402T>A (p.Val28801Asp)
c.81479T>A (p.Val27160Asp)
n.447-11570A>T
n.2043+17369A>T
c.85499T>A (p.Val28500Asp)
c.59393T>A (p.Val19798Asp)
c.59252T>A (p.Val19751Asp)
c.85295T>A (p.Val28432Asp)
c.80693T>A (p.Val26898Asp)
c.80690T>A (p.Val26897Asp)
c.77732T>A (p.Val25911Asp)
c.59348T>A (p.Val19783Asp)
c.80843T>A (p.Val26948Asp)
c.80840T>A (p.Val26947Asp)
c.80273T>A (p.Val26758Asp)
c.77615T>A (p.Val25872Asp)
c.77534T>A (p.Val25845Asp)
c.59297T>A (p.Val19766Asp)
c.49151T>A (p.Val16384Asp)
2g.178559731C>ACA349544034TTN,TTN-AS1c.78697G>T (p.Val26233Phe)
c.59782G>T (p.Val19928Phe)
c.59581G>T (p.Val19861Phe)
c.59206G>T (p.Val19736Phe)
c.86401G>T (p.Val28801Phe)
c.81478G>T (p.Val27160Phe)
n.447-11569C>A
n.2043+17370C>A
c.85498G>T (p.Val28500Phe)
c.59392G>T (p.Val19798Phe)
c.59251G>T (p.Val19751Phe)
c.85294G>T (p.Val28432Phe)
c.80692G>T (p.Val26898Phe)
c.80689G>T (p.Val26897Phe)
c.77731G>T (p.Val25911Phe)
c.59347G>T (p.Val19783Phe)
c.80842G>T (p.Val26948Phe)
c.80839G>T (p.Val26947Phe)
c.80272G>T (p.Val26758Phe)
c.77614G>T (p.Val25872Phe)
c.77533G>T (p.Val25845Phe)
c.59296G>T (p.Val19766Phe)
c.49150G>T (p.Val16384Phe)
 gnomAD v4
2g.178559731C>GCA349544036TTN,TTN-AS1c.78697G>C (p.Val26233Leu)
c.59782G>C (p.Val19928Leu)
c.59581G>C (p.Val19861Leu)
c.59206G>C (p.Val19736Leu)
c.86401G>C (p.Val28801Leu)
c.81478G>C (p.Val27160Leu)
n.447-11569C>G
n.2043+17370C>G
c.85498G>C (p.Val28500Leu)
c.59392G>C (p.Val19798Leu)
c.59251G>C (p.Val19751Leu)
c.85294G>C (p.Val28432Leu)
c.80692G>C (p.Val26898Leu)
c.80689G>C (p.Val26897Leu)
c.77731G>C (p.Val25911Leu)
c.59347G>C (p.Val19783Leu)
c.80842G>C (p.Val26948Leu)
c.80839G>C (p.Val26947Leu)
c.80272G>C (p.Val26758Leu)
c.77614G>C (p.Val25872Leu)
c.77533G>C (p.Val25845Leu)
c.59296G>C (p.Val19766Leu)
c.49150G>C (p.Val16384Leu)
2g.178559731C>TCA349544038TTN,TTN-AS1c.78697G>A (p.Val26233Ile)
c.59782G>A (p.Val19928Ile)
c.59581G>A (p.Val19861Ile)
c.59206G>A (p.Val19736Ile)
c.86401G>A (p.Val28801Ile)
c.81478G>A (p.Val27160Ile)
n.447-11569C>T
n.2043+17370C>T
c.85498G>A (p.Val28500Ile)
c.59392G>A (p.Val19798Ile)
c.59251G>A (p.Val19751Ile)
c.85294G>A (p.Val28432Ile)
c.80692G>A (p.Val26898Ile)
c.80689G>A (p.Val26897Ile)
c.77731G>A (p.Val25911Ile)
c.59347G>A (p.Val19783Ile)
c.80842G>A (p.Val26948Ile)
c.80839G>A (p.Val26947Ile)
c.80272G>A (p.Val26758Ile)
c.77614G>A (p.Val25872Ile)
c.77533G>A (p.Val25845Ile)
c.59296G>A (p.Val19766Ile)
c.49150G>A (p.Val16384Ile)
 gnomAD v4
2g.178559732A=CA1310526760TTN,TTN-AS1c.78696T= (p.Tyr26232=)
c.59781T= (p.Tyr19927=)
c.59580T= (p.Tyr19860=)
c.59205T= (p.Tyr19735=)
c.86400T= (p.Tyr28800=)
c.81477T= (p.Tyr27159=)
n.447-11568A=
n.2043+17371A=
c.85497T= (p.Tyr28499=)
c.59391T= (p.Tyr19797=)
c.59250T= (p.Tyr19750=)
c.85293T= (p.Tyr28431=)
c.80691T= (p.Tyr26897=)
c.80688T= (p.Tyr26896=)
c.77730T= (p.Tyr25910=)
c.59346T= (p.Tyr19782=)
c.80841T= (p.Tyr26947=)
c.80838T= (p.Tyr26946=)
c.80271T= (p.Tyr26757=)
c.77613T= (p.Tyr25871=)
c.77532T= (p.Tyr25844=)
c.59295T= (p.Tyr19765=)
c.49149T= (p.Tyr16383=)
2g.178559732A>CCA349544039TTN,TTN-AS1c.78696T>G (p.Tyr26232Ter)
c.59781T>G (p.Tyr19927Ter)
c.59580T>G (p.Tyr19860Ter)
c.59205T>G (p.Tyr19735Ter)
c.86400T>G (p.Tyr28800Ter)
c.81477T>G (p.Tyr27159Ter)
n.447-11568A>C
n.2043+17371A>C
c.85497T>G (p.Tyr28499Ter)
c.59391T>G (p.Tyr19797Ter)
c.59250T>G (p.Tyr19750Ter)
c.85293T>G (p.Tyr28431Ter)
c.80691T>G (p.Tyr26897Ter)
c.80688T>G (p.Tyr26896Ter)
c.77730T>G (p.Tyr25910Ter)
c.59346T>G (p.Tyr19782Ter)
c.80841T>G (p.Tyr26947Ter)
c.80838T>G (p.Tyr26946Ter)
c.80271T>G (p.Tyr26757Ter)
c.77613T>G (p.Tyr25871Ter)
c.77532T>G (p.Tyr25844Ter)
c.59295T>G (p.Tyr19765Ter)
c.49149T>G (p.Tyr16383Ter)
2g.178559732A>GCA1988505TTN,TTN-AS1c.78696T>C (p.Tyr26232=)
c.59781T>C (p.Tyr19927=)
c.59580T>C (p.Tyr19860=)
c.59205T>C (p.Tyr19735=)
c.86400T>C (p.Tyr28800=)
c.81477T>C (p.Tyr27159=)
n.447-11568A>G
n.2043+17371A>G
c.85497T>C (p.Tyr28499=)
c.59391T>C (p.Tyr19797=)
c.59250T>C (p.Tyr19750=)
c.85293T>C (p.Tyr28431=)
c.80691T>C (p.Tyr26897=)
c.80688T>C (p.Tyr26896=)
c.77730T>C (p.Tyr25910=)
c.59346T>C (p.Tyr19782=)
c.80841T>C (p.Tyr26947=)
c.80838T>C (p.Tyr26946=)
c.80271T>C (p.Tyr26757=)
c.77613T>C (p.Tyr25871=)
c.77532T>C (p.Tyr25844=)
c.59295T>C (p.Tyr19765=)
c.49149T>C (p.Tyr16383=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178559732A>TCA349544042TTN,TTN-AS1c.78696T>A (p.Tyr26232Ter)
c.59781T>A (p.Tyr19927Ter)
c.59580T>A (p.Tyr19860Ter)
c.59205T>A (p.Tyr19735Ter)
c.86400T>A (p.Tyr28800Ter)
c.81477T>A (p.Tyr27159Ter)
n.447-11568A>T
n.2043+17371A>T
c.85497T>A (p.Tyr28499Ter)
c.59391T>A (p.Tyr19797Ter)
c.59250T>A (p.Tyr19750Ter)
c.85293T>A (p.Tyr28431Ter)
c.80691T>A (p.Tyr26897Ter)
c.80688T>A (p.Tyr26896Ter)
c.77730T>A (p.Tyr25910Ter)
c.59346T>A (p.Tyr19782Ter)
c.80841T>A (p.Tyr26947Ter)
c.80838T>A (p.Tyr26946Ter)
c.80271T>A (p.Tyr26757Ter)
c.77613T>A (p.Tyr25871Ter)
c.77532T>A (p.Tyr25844Ter)
c.59295T>A (p.Tyr19765Ter)
c.49149T>A (p.Tyr16383Ter)
2g.178559733T>ACA349544046TTN,TTN-AS1c.78695A>T (p.Tyr26232Phe)
c.59780A>T (p.Tyr19927Phe)
c.59579A>T (p.Tyr19860Phe)
c.59204A>T (p.Tyr19735Phe)
c.86399A>T (p.Tyr28800Phe)
c.81476A>T (p.Tyr27159Phe)
n.447-11567T>A
n.2043+17372T>A
c.85496A>T (p.Tyr28499Phe)
c.59390A>T (p.Tyr19797Phe)
c.59249A>T (p.Tyr19750Phe)
c.85292A>T (p.Tyr28431Phe)
c.80690A>T (p.Tyr26897Phe)
c.80687A>T (p.Tyr26896Phe)
c.77729A>T (p.Tyr25910Phe)
c.59345A>T (p.Tyr19782Phe)
c.80840A>T (p.Tyr26947Phe)
c.80837A>T (p.Tyr26946Phe)
c.80270A>T (p.Tyr26757Phe)
c.77612A>T (p.Tyr25871Phe)
c.77531A>T (p.Tyr25844Phe)
c.59294A>T (p.Tyr19765Phe)
c.49148A>T (p.Tyr16383Phe)
2g.178559733T>CCA349544048TTN,TTN-AS1c.78695A>G (p.Tyr26232Cys)
c.59780A>G (p.Tyr19927Cys)
c.59579A>G (p.Tyr19860Cys)
c.59204A>G (p.Tyr19735Cys)
c.86399A>G (p.Tyr28800Cys)
c.81476A>G (p.Tyr27159Cys)
n.447-11567T>C
n.2043+17372T>C
c.85496A>G (p.Tyr28499Cys)
c.59390A>G (p.Tyr19797Cys)
c.59249A>G (p.Tyr19750Cys)
c.85292A>G (p.Tyr28431Cys)
c.80690A>G (p.Tyr26897Cys)
c.80687A>G (p.Tyr26896Cys)
c.77729A>G (p.Tyr25910Cys)
c.59345A>G (p.Tyr19782Cys)
c.80840A>G (p.Tyr26947Cys)
c.80837A>G (p.Tyr26946Cys)
c.80270A>G (p.Tyr26757Cys)
c.77612A>G (p.Tyr25871Cys)
c.77531A>G (p.Tyr25844Cys)
c.59294A>G (p.Tyr19765Cys)
c.49148A>G (p.Tyr16383Cys)
2g.178559733T>GCA349544050TTN,TTN-AS1c.78695A>C (p.Tyr26232Ser)
c.59780A>C (p.Tyr19927Ser)
c.59579A>C (p.Tyr19860Ser)
c.59204A>C (p.Tyr19735Ser)
c.86399A>C (p.Tyr28800Ser)
c.81476A>C (p.Tyr27159Ser)
n.447-11567T>G
n.2043+17372T>G
c.85496A>C (p.Tyr28499Ser)
c.59390A>C (p.Tyr19797Ser)
c.59249A>C (p.Tyr19750Ser)
c.85292A>C (p.Tyr28431Ser)
c.80690A>C (p.Tyr26897Ser)
c.80687A>C (p.Tyr26896Ser)
c.77729A>C (p.Tyr25910Ser)
c.59345A>C (p.Tyr19782Ser)
c.80840A>C (p.Tyr26947Ser)
c.80837A>C (p.Tyr26946Ser)
c.80270A>C (p.Tyr26757Ser)
c.77612A>C (p.Tyr25871Ser)
c.77531A>C (p.Tyr25844Ser)
c.59294A>C (p.Tyr19765Ser)
c.49148A>C (p.Tyr16383Ser)
 gnomAD v4
2g.178559734A>CCA349544053TTN,TTN-AS1c.78694T>G (p.Tyr26232Asp)
c.59779T>G (p.Tyr19927Asp)
c.59578T>G (p.Tyr19860Asp)
c.59203T>G (p.Tyr19735Asp)
c.86398T>G (p.Tyr28800Asp)
c.81475T>G (p.Tyr27159Asp)
n.447-11566A>C
n.2043+17373A>C
c.85495T>G (p.Tyr28499Asp)
c.59389T>G (p.Tyr19797Asp)
c.59248T>G (p.Tyr19750Asp)
c.85291T>G (p.Tyr28431Asp)
c.80689T>G (p.Tyr26897Asp)
c.80686T>G (p.Tyr26896Asp)
c.77728T>G (p.Tyr25910Asp)
c.59344T>G (p.Tyr19782Asp)
c.80839T>G (p.Tyr26947Asp)
c.80836T>G (p.Tyr26946Asp)
c.80269T>G (p.Tyr26757Asp)
c.77611T>G (p.Tyr25871Asp)
c.77530T>G (p.Tyr25844Asp)
c.59293T>G (p.Tyr19765Asp)
c.49147T>G (p.Tyr16383Asp)
2g.178559734A>GCA349544057TTN,TTN-AS1c.78694T>C (p.Tyr26232His)
c.59779T>C (p.Tyr19927His)
c.59578T>C (p.Tyr19860His)
c.59203T>C (p.Tyr19735His)
c.86398T>C (p.Tyr28800His)
c.81475T>C (p.Tyr27159His)
n.447-11566A>G
n.2043+17373A>G
c.85495T>C (p.Tyr28499His)
c.59389T>C (p.Tyr19797His)
c.59248T>C (p.Tyr19750His)
c.85291T>C (p.Tyr28431His)
c.80689T>C (p.Tyr26897His)
c.80686T>C (p.Tyr26896His)
c.77728T>C (p.Tyr25910His)
c.59344T>C (p.Tyr19782His)
c.80839T>C (p.Tyr26947His)
c.80836T>C (p.Tyr26946His)
c.80269T>C (p.Tyr26757His)
c.77611T>C (p.Tyr25871His)
c.77530T>C (p.Tyr25844His)
c.59293T>C (p.Tyr19765His)
c.49147T>C (p.Tyr16383His)
2g.178559734A>TCA349544054TTN,TTN-AS1c.78694T>A (p.Tyr26232Asn)
c.59779T>A (p.Tyr19927Asn)
c.59578T>A (p.Tyr19860Asn)
c.59203T>A (p.Tyr19735Asn)
c.86398T>A (p.Tyr28800Asn)
c.81475T>A (p.Tyr27159Asn)
n.447-11566A>T
n.2043+17373A>T
c.85495T>A (p.Tyr28499Asn)
c.59389T>A (p.Tyr19797Asn)
c.59248T>A (p.Tyr19750Asn)
c.85291T>A (p.Tyr28431Asn)
c.80689T>A (p.Tyr26897Asn)
c.80686T>A (p.Tyr26896Asn)
c.77728T>A (p.Tyr25910Asn)
c.59344T>A (p.Tyr19782Asn)
c.80839T>A (p.Tyr26947Asn)
c.80836T>A (p.Tyr26946Asn)
c.80269T>A (p.Tyr26757Asn)
c.77611T>A (p.Tyr25871Asn)
c.77530T>A (p.Tyr25844Asn)
c.59293T>A (p.Tyr19765Asn)
c.49147T>A (p.Tyr16383Asn)
2g.178559735A=CA1310526761TTN,TTN-AS1c.78693T= (p.Ala26231=)
c.59778T= (p.Ala19926=)
c.59577T= (p.Ala19859=)
c.59202T= (p.Ala19734=)
c.86397T= (p.Ala28799=)
c.81474T= (p.Ala27158=)
n.447-11565A=
n.2043+17374A=
c.85494T= (p.Ala28498=)
c.59388T= (p.Ala19796=)
c.59247T= (p.Ala19749=)
c.85290T= (p.Ala28430=)
c.80688T= (p.Ala26896=)
c.80685T= (p.Ala26895=)
c.77727T= (p.Ala25909=)
c.59343T= (p.Ala19781=)
c.80838T= (p.Ala26946=)
c.80835T= (p.Ala26945=)
c.80268T= (p.Ala26756=)
c.77610T= (p.Ala25870=)
c.77529T= (p.Ala25843=)
c.59292T= (p.Ala19764=)
c.49146T= (p.Ala16382=)
2g.178559735A>CCA430248100TTN,TTN-AS1c.78693T>G (p.Ala26231=)
c.59778T>G (p.Ala19926=)
c.59577T>G (p.Ala19859=)
c.59202T>G (p.Ala19734=)
c.86397T>G (p.Ala28799=)
c.81474T>G (p.Ala27158=)
n.447-11565A>C
n.2043+17374A>C
c.85494T>G (p.Ala28498=)
c.59388T>G (p.Ala19796=)
c.59247T>G (p.Ala19749=)
c.85290T>G (p.Ala28430=)
c.80688T>G (p.Ala26896=)
c.80685T>G (p.Ala26895=)
c.77727T>G (p.Ala25909=)
c.59343T>G (p.Ala19781=)
c.80838T>G (p.Ala26946=)
c.80835T>G (p.Ala26945=)
c.80268T>G (p.Ala26756=)
c.77610T>G (p.Ala25870=)
c.77529T>G (p.Ala25843=)
c.59292T>G (p.Ala19764=)
c.49146T>G (p.Ala16382=)
 dbSNP
2g.178559735A>GCA430248101TTN,TTN-AS1c.78693T>C (p.Ala26231=)
c.59778T>C (p.Ala19926=)
c.59577T>C (p.Ala19859=)
c.59202T>C (p.Ala19734=)
c.86397T>C (p.Ala28799=)
c.81474T>C (p.Ala27158=)
n.447-11565A>G
n.2043+17374A>G
c.85494T>C (p.Ala28498=)
c.59388T>C (p.Ala19796=)
c.59247T>C (p.Ala19749=)
c.85290T>C (p.Ala28430=)
c.80688T>C (p.Ala26896=)
c.80685T>C (p.Ala26895=)
c.77727T>C (p.Ala25909=)
c.59343T>C (p.Ala19781=)
c.80838T>C (p.Ala26946=)
c.80835T>C (p.Ala26945=)
c.80268T>C (p.Ala26756=)
c.77610T>C (p.Ala25870=)
c.77529T>C (p.Ala25843=)
c.59292T>C (p.Ala19764=)
c.49146T>C (p.Ala16382=)
2g.178559735A>TCA430248102TTN,TTN-AS1c.78693T>A (p.Ala26231=)
c.59778T>A (p.Ala19926=)
c.59577T>A (p.Ala19859=)
c.59202T>A (p.Ala19734=)
c.86397T>A (p.Ala28799=)
c.81474T>A (p.Ala27158=)
n.447-11565A>T
n.2043+17374A>T
c.85494T>A (p.Ala28498=)
c.59388T>A (p.Ala19796=)
c.59247T>A (p.Ala19749=)
c.85290T>A (p.Ala28430=)
c.80688T>A (p.Ala26896=)
c.80685T>A (p.Ala26895=)
c.77727T>A (p.Ala25909=)
c.59343T>A (p.Ala19781=)
c.80838T>A (p.Ala26946=)
c.80835T>A (p.Ala26945=)
c.80268T>A (p.Ala26756=)
c.77610T>A (p.Ala25870=)
c.77529T>A (p.Ala25843=)
c.59292T>A (p.Ala19764=)
c.49146T>A (p.Ala16382=)
 gnomAD v4
2g.178559736G>ACA349544060TTN,TTN-AS1c.78692C>T (p.Ala26231Val)
c.59777C>T (p.Ala19926Val)
c.59576C>T (p.Ala19859Val)
c.59201C>T (p.Ala19734Val)
c.86396C>T (p.Ala28799Val)
c.81473C>T (p.Ala27158Val)
n.447-11564G>A
n.2043+17375G>A
c.85493C>T (p.Ala28498Val)
c.59387C>T (p.Ala19796Val)
c.59246C>T (p.Ala19749Val)
c.85289C>T (p.Ala28430Val)
c.80687C>T (p.Ala26896Val)
c.80684C>T (p.Ala26895Val)
c.77726C>T (p.Ala25909Val)
c.59342C>T (p.Ala19781Val)
c.80837C>T (p.Ala26946Val)
c.80834C>T (p.Ala26945Val)
c.80267C>T (p.Ala26756Val)
c.77609C>T (p.Ala25870Val)
c.77528C>T (p.Ala25843Val)
c.59291C>T (p.Ala19764Val)
c.49145C>T (p.Ala16382Val)
 gnomAD v4
2g.178559736G>CCA349544063TTN,TTN-AS1c.78692C>G (p.Ala26231Gly)
c.59777C>G (p.Ala19926Gly)
c.59576C>G (p.Ala19859Gly)
c.59201C>G (p.Ala19734Gly)
c.86396C>G (p.Ala28799Gly)
c.81473C>G (p.Ala27158Gly)
n.447-11564G>C
n.2043+17375G>C
c.85493C>G (p.Ala28498Gly)
c.59387C>G (p.Ala19796Gly)
c.59246C>G (p.Ala19749Gly)
c.85289C>G (p.Ala28430Gly)
c.80687C>G (p.Ala26896Gly)
c.80684C>G (p.Ala26895Gly)
c.77726C>G (p.Ala25909Gly)
c.59342C>G (p.Ala19781Gly)
c.80837C>G (p.Ala26946Gly)
c.80834C>G (p.Ala26945Gly)
c.80267C>G (p.Ala26756Gly)
c.77609C>G (p.Ala25870Gly)
c.77528C>G (p.Ala25843Gly)
c.59291C>G (p.Ala19764Gly)
c.49145C>G (p.Ala16382Gly)
 dbSNP
2g.178559736G=CA1310526762TTN,TTN-AS1c.78692C= (p.Ala26231=)
c.59777C= (p.Ala19926=)
c.59576C= (p.Ala19859=)
c.59201C= (p.Ala19734=)
c.86396C= (p.Ala28799=)
c.81473C= (p.Ala27158=)
n.447-11564G=
n.2043+17375G=
c.85493C= (p.Ala28498=)
c.59387C= (p.Ala19796=)
c.59246C= (p.Ala19749=)
c.85289C= (p.Ala28430=)
c.80687C= (p.Ala26896=)
c.80684C= (p.Ala26895=)
c.77726C= (p.Ala25909=)
c.59342C= (p.Ala19781=)
c.80837C= (p.Ala26946=)
c.80834C= (p.Ala26945=)
c.80267C= (p.Ala26756=)
c.77609C= (p.Ala25870=)
c.77528C= (p.Ala25843=)
c.59291C= (p.Ala19764=)
c.49145C= (p.Ala16382=)
2g.178559736G>TCA349544064TTN,TTN-AS1c.78692C>A (p.Ala26231Asp)
c.59777C>A (p.Ala19926Asp)
c.59576C>A (p.Ala19859Asp)
c.59201C>A (p.Ala19734Asp)
c.86396C>A (p.Ala28799Asp)
c.81473C>A (p.Ala27158Asp)
n.447-11564G>T
n.2043+17375G>T
c.85493C>A (p.Ala28498Asp)
c.59387C>A (p.Ala19796Asp)
c.59246C>A (p.Ala19749Asp)
c.85289C>A (p.Ala28430Asp)
c.80687C>A (p.Ala26896Asp)
c.80684C>A (p.Ala26895Asp)
c.77726C>A (p.Ala25909Asp)
c.59342C>A (p.Ala19781Asp)
c.80837C>A (p.Ala26946Asp)
c.80834C>A (p.Ala26945Asp)
c.80267C>A (p.Ala26756Asp)
c.77609C>A (p.Ala25870Asp)
c.77528C>A (p.Ala25843Asp)
c.59291C>A (p.Ala19764Asp)
c.49145C>A (p.Ala16382Asp)
2g.178559737C>ACA349544066TTN,TTN-AS1c.78691G>T (p.Ala26231Ser)
c.59776G>T (p.Ala19926Ser)
c.59575G>T (p.Ala19859Ser)
c.59200G>T (p.Ala19734Ser)
c.86395G>T (p.Ala28799Ser)
c.81472G>T (p.Ala27158Ser)
n.447-11563C>A
n.2043+17376C>A
c.85492G>T (p.Ala28498Ser)
c.59386G>T (p.Ala19796Ser)
c.59245G>T (p.Ala19749Ser)
c.85288G>T (p.Ala28430Ser)
c.80686G>T (p.Ala26896Ser)
c.80683G>T (p.Ala26895Ser)
c.77725G>T (p.Ala25909Ser)
c.59341G>T (p.Ala19781Ser)
c.80836G>T (p.Ala26946Ser)
c.80833G>T (p.Ala26945Ser)
c.80266G>T (p.Ala26756Ser)
c.77608G>T (p.Ala25870Ser)
c.77527G>T (p.Ala25843Ser)
c.59290G>T (p.Ala19764Ser)
c.49144G>T (p.Ala16382Ser)
2g.178559737C=CA1310526763TTN,TTN-AS1c.78691G= (p.Ala26231=)
c.59776G= (p.Ala19926=)
c.59575G= (p.Ala19859=)
c.59200G= (p.Ala19734=)
c.86395G= (p.Ala28799=)
c.81472G= (p.Ala27158=)
n.447-11563C=
n.2043+17376C=
c.85492G= (p.Ala28498=)
c.59386G= (p.Ala19796=)
c.59245G= (p.Ala19749=)
c.85288G= (p.Ala28430=)
c.80686G= (p.Ala26896=)
c.80683G= (p.Ala26895=)
c.77725G= (p.Ala25909=)
c.59341G= (p.Ala19781=)
c.80836G= (p.Ala26946=)
c.80833G= (p.Ala26945=)
c.80266G= (p.Ala26756=)
c.77608G= (p.Ala25870=)
c.77527G= (p.Ala25843=)
c.59290G= (p.Ala19764=)
c.49144G= (p.Ala16382=)
2g.178559737C>GCA1988506TTN,TTN-AS1c.78691G>C (p.Ala26231Pro)
c.59776G>C (p.Ala19926Pro)
c.59575G>C (p.Ala19859Pro)
c.59200G>C (p.Ala19734Pro)
c.86395G>C (p.Ala28799Pro)
c.81472G>C (p.Ala27158Pro)
n.447-11563C>G
n.2043+17376C>G
c.85492G>C (p.Ala28498Pro)
c.59386G>C (p.Ala19796Pro)
c.59245G>C (p.Ala19749Pro)
c.85288G>C (p.Ala28430Pro)
c.80686G>C (p.Ala26896Pro)
c.80683G>C (p.Ala26895Pro)
c.77725G>C (p.Ala25909Pro)
c.59341G>C (p.Ala19781Pro)
c.80836G>C (p.Ala26946Pro)
c.80833G>C (p.Ala26945Pro)
c.80266G>C (p.Ala26756Pro)
c.77608G>C (p.Ala25870Pro)
c.77527G>C (p.Ala25843Pro)
c.59290G>C (p.Ala19764Pro)
c.49144G>C (p.Ala16382Pro)
 dbSNP ExAC gnomAD v2
2g.178559737C>TCA349544070TTN,TTN-AS1c.78691G>A (p.Ala26231Thr)
c.59776G>A (p.Ala19926Thr)
c.59575G>A (p.Ala19859Thr)
c.59200G>A (p.Ala19734Thr)
c.86395G>A (p.Ala28799Thr)
c.81472G>A (p.Ala27158Thr)
n.447-11563C>T
n.2043+17376C>T
c.85492G>A (p.Ala28498Thr)
c.59386G>A (p.Ala19796Thr)
c.59245G>A (p.Ala19749Thr)
c.85288G>A (p.Ala28430Thr)
c.80686G>A (p.Ala26896Thr)
c.80683G>A (p.Ala26895Thr)
c.77725G>A (p.Ala25909Thr)
c.59341G>A (p.Ala19781Thr)
c.80836G>A (p.Ala26946Thr)
c.80833G>A (p.Ala26945Thr)
c.80266G>A (p.Ala26756Thr)
c.77608G>A (p.Ala25870Thr)
c.77527G>A (p.Ala25843Thr)
c.59290G>A (p.Ala19764Thr)
c.49144G>A (p.Ala16382Thr)
 dbSNP gnomAD v4
2g.178559738T>ACA349544079TTN,TTN-AS1c.78690A>T (p.Arg26230Ser)
c.59775A>T (p.Arg19925Ser)
c.59574A>T (p.Arg19858Ser)
c.59199A>T (p.Arg19733Ser)
c.86394A>T (p.Arg28798Ser)
c.81471A>T (p.Arg27157Ser)
n.447-11562T>A
n.2043+17377T>A
c.85491A>T (p.Arg28497Ser)
c.59385A>T (p.Arg19795Ser)
c.59244A>T (p.Arg19748Ser)
c.85287A>T (p.Arg28429Ser)
c.80685A>T (p.Arg26895Ser)
c.80682A>T (p.Arg26894Ser)
c.77724A>T (p.Arg25908Ser)
c.59340A>T (p.Arg19780Ser)
c.80835A>T (p.Arg26945Ser)
c.80832A>T (p.Arg26944Ser)
c.80265A>T (p.Arg26755Ser)
c.77607A>T (p.Arg25869Ser)
c.77526A>T (p.Arg25842Ser)
c.59289A>T (p.Arg19763Ser)
c.49143A>T (p.Arg16381Ser)
2g.178559738T>CCA430248104TTN,TTN-AS1c.78690A>G (p.Arg26230=)
c.59775A>G (p.Arg19925=)
c.59574A>G (p.Arg19858=)
c.59199A>G (p.Arg19733=)
c.86394A>G (p.Arg28798=)
c.81471A>G (p.Arg27157=)
n.447-11562T>C
n.2043+17377T>C
c.85491A>G (p.Arg28497=)
c.59385A>G (p.Arg19795=)
c.59244A>G (p.Arg19748=)
c.85287A>G (p.Arg28429=)
c.80685A>G (p.Arg26895=)
c.80682A>G (p.Arg26894=)
c.77724A>G (p.Arg25908=)
c.59340A>G (p.Arg19780=)
c.80835A>G (p.Arg26945=)
c.80832A>G (p.Arg26944=)
c.80265A>G (p.Arg26755=)
c.77607A>G (p.Arg25869=)
c.77526A>G (p.Arg25842=)
c.59289A>G (p.Arg19763=)
c.49143A>G (p.Arg16381=)
2g.178559738T>GCA349544081TTN,TTN-AS1c.78690A>C (p.Arg26230Ser)
c.59775A>C (p.Arg19925Ser)
c.59574A>C (p.Arg19858Ser)
c.59199A>C (p.Arg19733Ser)
c.86394A>C (p.Arg28798Ser)
c.81471A>C (p.Arg27157Ser)
n.447-11562T>G
n.2043+17377T>G
c.85491A>C (p.Arg28497Ser)
c.59385A>C (p.Arg19795Ser)
c.59244A>C (p.Arg19748Ser)
c.85287A>C (p.Arg28429Ser)
c.80685A>C (p.Arg26895Ser)
c.80682A>C (p.Arg26894Ser)
c.77724A>C (p.Arg25908Ser)
c.59340A>C (p.Arg19780Ser)
c.80835A>C (p.Arg26945Ser)
c.80832A>C (p.Arg26944Ser)
c.80265A>C (p.Arg26755Ser)
c.77607A>C (p.Arg25869Ser)
c.77526A>C (p.Arg25842Ser)
c.59289A>C (p.Arg19763Ser)
c.49143A>C (p.Arg16381Ser)
2g.178559739C>ACA349544084TTN,TTN-AS1c.78689G>T (p.Arg26230Ile)
c.59774G>T (p.Arg19925Ile)
c.59573G>T (p.Arg19858Ile)
c.59198G>T (p.Arg19733Ile)
c.86393G>T (p.Arg28798Ile)
c.81470G>T (p.Arg27157Ile)
n.447-11561C>A
n.2043+17378C>A
c.85490G>T (p.Arg28497Ile)
c.59384G>T (p.Arg19795Ile)
c.59243G>T (p.Arg19748Ile)
c.85286G>T (p.Arg28429Ile)
c.80684G>T (p.Arg26895Ile)
c.80681G>T (p.Arg26894Ile)
c.77723G>T (p.Arg25908Ile)
c.59339G>T (p.Arg19780Ile)
c.80834G>T (p.Arg26945Ile)
c.80831G>T (p.Arg26944Ile)
c.80264G>T (p.Arg26755Ile)
c.77606G>T (p.Arg25869Ile)
c.77525G>T (p.Arg25842Ile)
c.59288G>T (p.Arg19763Ile)
c.49142G>T (p.Arg16381Ile)
 gnomAD v4
2g.178559739C=CA1310526764TTN,TTN-AS1c.78689G= (p.Arg26230=)
c.59774G= (p.Arg19925=)
c.59573G= (p.Arg19858=)
c.59198G= (p.Arg19733=)
c.86393G= (p.Arg28798=)
c.81470G= (p.Arg27157=)
n.447-11561C=
n.2043+17378C=
c.85490G= (p.Arg28497=)
c.59384G= (p.Arg19795=)
c.59243G= (p.Arg19748=)
c.85286G= (p.Arg28429=)
c.80684G= (p.Arg26895=)
c.80681G= (p.Arg26894=)
c.77723G= (p.Arg25908=)
c.59339G= (p.Arg19780=)
c.80834G= (p.Arg26945=)
c.80831G= (p.Arg26944=)
c.80264G= (p.Arg26755=)
c.77606G= (p.Arg25869=)
c.77525G= (p.Arg25842=)
c.59288G= (p.Arg19763=)
c.49142G= (p.Arg16381=)
2g.178559739C>GCA349544087TTN,TTN-AS1c.78689G>C (p.Arg26230Thr)
c.59774G>C (p.Arg19925Thr)
c.59573G>C (p.Arg19858Thr)
c.59198G>C (p.Arg19733Thr)
c.86393G>C (p.Arg28798Thr)
c.81470G>C (p.Arg27157Thr)
n.447-11561C>G
n.2043+17378C>G
c.85490G>C (p.Arg28497Thr)
c.59384G>C (p.Arg19795Thr)
c.59243G>C (p.Arg19748Thr)
c.85286G>C (p.Arg28429Thr)
c.80684G>C (p.Arg26895Thr)
c.80681G>C (p.Arg26894Thr)
c.77723G>C (p.Arg25908Thr)
c.59339G>C (p.Arg19780Thr)
c.80834G>C (p.Arg26945Thr)
c.80831G>C (p.Arg26944Thr)
c.80264G>C (p.Arg26755Thr)
c.77606G>C (p.Arg25869Thr)
c.77525G>C (p.Arg25842Thr)
c.59288G>C (p.Arg19763Thr)
c.49142G>C (p.Arg16381Thr)
2g.178559739C>TCA1988507TTN,TTN-AS1c.78689G>A (p.Arg26230Lys)
c.59774G>A (p.Arg19925Lys)
c.59573G>A (p.Arg19858Lys)
c.59198G>A (p.Arg19733Lys)
c.86393G>A (p.Arg28798Lys)
c.81470G>A (p.Arg27157Lys)
n.447-11561C>T
n.2043+17378C>T
c.85490G>A (p.Arg28497Lys)
c.59384G>A (p.Arg19795Lys)
c.59243G>A (p.Arg19748Lys)
c.85286G>A (p.Arg28429Lys)
c.80684G>A (p.Arg26895Lys)
c.80681G>A (p.Arg26894Lys)
c.77723G>A (p.Arg25908Lys)
c.59339G>A (p.Arg19780Lys)
c.80834G>A (p.Arg26945Lys)
c.80831G>A (p.Arg26944Lys)
c.80264G>A (p.Arg26755Lys)
c.77606G>A (p.Arg25869Lys)
c.77525G>A (p.Arg25842Lys)
c.59288G>A (p.Arg19763Lys)
c.49142G>A (p.Arg16381Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178559740T>ACA349544093TTN,TTN-AS1c.78688A>T (p.Arg26230Ter)
c.59773A>T (p.Arg19925Ter)
c.59572A>T (p.Arg19858Ter)
c.59197A>T (p.Arg19733Ter)
c.86392A>T (p.Arg28798Ter)
c.81469A>T (p.Arg27157Ter)
n.447-11560T>A
n.2043+17379T>A
c.85489A>T (p.Arg28497Ter)
c.59383A>T (p.Arg19795Ter)
c.59242A>T (p.Arg19748Ter)
c.85285A>T (p.Arg28429Ter)
c.80683A>T (p.Arg26895Ter)
c.80680A>T (p.Arg26894Ter)
c.77722A>T (p.Arg25908Ter)
c.59338A>T (p.Arg19780Ter)
c.80833A>T (p.Arg26945Ter)
c.80830A>T (p.Arg26944Ter)
c.80263A>T (p.Arg26755Ter)
c.77605A>T (p.Arg25869Ter)
c.77524A>T (p.Arg25842Ter)
c.59287A>T (p.Arg19763Ter)
c.49141A>T (p.Arg16381Ter)
 ClinVar
2g.178559740T>CCA349544095TTN,TTN-AS1c.78688A>G (p.Arg26230Gly)
c.59773A>G (p.Arg19925Gly)
c.59572A>G (p.Arg19858Gly)
c.59197A>G (p.Arg19733Gly)
c.86392A>G (p.Arg28798Gly)
c.81469A>G (p.Arg27157Gly)
n.447-11560T>C
n.2043+17379T>C
c.85489A>G (p.Arg28497Gly)
c.59383A>G (p.Arg19795Gly)
c.59242A>G (p.Arg19748Gly)
c.85285A>G (p.Arg28429Gly)
c.80683A>G (p.Arg26895Gly)
c.80680A>G (p.Arg26894Gly)
c.77722A>G (p.Arg25908Gly)
c.59338A>G (p.Arg19780Gly)
c.80833A>G (p.Arg26945Gly)
c.80830A>G (p.Arg26944Gly)
c.80263A>G (p.Arg26755Gly)
c.77605A>G (p.Arg25869Gly)
c.77524A>G (p.Arg25842Gly)
c.59287A>G (p.Arg19763Gly)
c.49141A>G (p.Arg16381Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178559740T>GCA1988508TTN,TTN-AS1c.78688A>C (p.Arg26230=)
c.59773A>C (p.Arg19925=)
c.59572A>C (p.Arg19858=)
c.59197A>C (p.Arg19733=)
c.86392A>C (p.Arg28798=)
c.81469A>C (p.Arg27157=)
n.447-11560T>G
n.2043+17379T>G
c.85489A>C (p.Arg28497=)
c.59383A>C (p.Arg19795=)
c.59242A>C (p.Arg19748=)
c.85285A>C (p.Arg28429=)
c.80683A>C (p.Arg26895=)
c.80680A>C (p.Arg26894=)
c.77722A>C (p.Arg25908=)
c.59338A>C (p.Arg19780=)
c.80833A>C (p.Arg26945=)
c.80830A>C (p.Arg26944=)
c.80263A>C (p.Arg26755=)
c.77605A>C (p.Arg25869=)
c.77524A>C (p.Arg25842=)
c.59287A>C (p.Arg19763=)
c.49141A>C (p.Arg16381=)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.178559740T=CA1310526765TTN,TTN-AS1c.78688A= (p.Arg26230=)
c.59773A= (p.Arg19925=)
c.59572A= (p.Arg19858=)
c.59197A= (p.Arg19733=)
c.86392A= (p.Arg28798=)
c.81469A= (p.Arg27157=)
n.447-11560T=
n.2043+17379T=
c.85489A= (p.Arg28497=)
c.59383A= (p.Arg19795=)
c.59242A= (p.Arg19748=)
c.85285A= (p.Arg28429=)
c.80683A= (p.Arg26895=)
c.80680A= (p.Arg26894=)
c.77722A= (p.Arg25908=)
c.59338A= (p.Arg19780=)
c.80833A= (p.Arg26945=)
c.80830A= (p.Arg26944=)
c.80263A= (p.Arg26755=)
c.77605A= (p.Arg25869=)
c.77524A= (p.Arg25842=)
c.59287A= (p.Arg19763=)
c.49141A= (p.Arg16381=)
2g.178559740_178559745delinsTAGTACCA1310526766TTN,TTN-AS1c.78683_78688delinsGTACTA (p.Arg26228=)
c.59768_59773delinsGTACTA (p.Arg19923=)
c.59567_59572delinsGTACTA (p.Arg19856=)
c.59192_59197delinsGTACTA (p.Arg19731=)
c.86387_86392delinsGTACTA (p.Arg28796=)
c.81464_81469delinsGTACTA (p.Arg27155=)
n.447-11560_447-11555delinsTAGTAC
n.2043+17379_2043+17384delinsTAGTAC
c.85484_85489delinsGTACTA (p.Arg28495=)
c.59378_59383delinsGTACTA (p.Arg19793=)
c.59237_59242delinsGTACTA (p.Arg19746=)
c.85280_85285delinsGTACTA (p.Arg28427=)
c.80678_80683delinsGTACTA (p.Arg26893=)
c.80675_80680delinsGTACTA (p.Arg26892=)
c.77717_77722delinsGTACTA (p.Arg25906=)
c.59333_59338delinsGTACTA (p.Arg19778=)
c.80828_80833delinsGTACTA (p.Arg26943=)
c.80825_80830delinsGTACTA (p.Arg26942=)
c.80258_80263delinsGTACTA (p.Arg26753=)
c.77600_77605delinsGTACTA (p.Arg25867=)
c.77519_77524delinsGTACTA (p.Arg25840=)
c.59282_59287delinsGTACTA (p.Arg19761=)
c.49136_49141delinsGTACTA (p.Arg16379=)
2g.178559741A=CA1310526767TTN,TTN-AS1c.78687T= (p.Thr26229=)
c.59772T= (p.Thr19924=)
c.59571T= (p.Thr19857=)
c.59196T= (p.Thr19732=)
c.86391T= (p.Thr28797=)
c.81468T= (p.Thr27156=)
n.447-11559A=
n.2043+17380A=
c.85488T= (p.Thr28496=)
c.59382T= (p.Thr19794=)
c.59241T= (p.Thr19747=)
c.85284T= (p.Thr28428=)
c.80682T= (p.Thr26894=)
c.80679T= (p.Thr26893=)
c.77721T= (p.Thr25907=)
c.59337T= (p.Thr19779=)
c.80832T= (p.Thr26944=)
c.80829T= (p.Thr26943=)
c.80262T= (p.Thr26754=)
c.77604T= (p.Thr25868=)
c.77523T= (p.Thr25841=)
c.59286T= (p.Thr19762=)
c.49140T= (p.Thr16380=)
2g.178559741A>CCA430248111TTN,TTN-AS1c.78687T>G (p.Thr26229=)
c.59772T>G (p.Thr19924=)
c.59571T>G (p.Thr19857=)
c.59196T>G (p.Thr19732=)
c.86391T>G (p.Thr28797=)
c.81468T>G (p.Thr27156=)
n.447-11559A>C
n.2043+17380A>C
c.85488T>G (p.Thr28496=)
c.59382T>G (p.Thr19794=)
c.59241T>G (p.Thr19747=)
c.85284T>G (p.Thr28428=)
c.80682T>G (p.Thr26894=)
c.80679T>G (p.Thr26893=)
c.77721T>G (p.Thr25907=)
c.59337T>G (p.Thr19779=)
c.80832T>G (p.Thr26944=)
c.80829T>G (p.Thr26943=)
c.80262T>G (p.Thr26754=)
c.77604T>G (p.Thr25868=)
c.77523T>G (p.Thr25841=)
c.59286T>G (p.Thr19762=)
c.49140T>G (p.Thr16380=)
 ClinVar dbSNP
2g.178559741A>GCA430248110TTN,TTN-AS1c.78687T>C (p.Thr26229=)
c.59772T>C (p.Thr19924=)
c.59571T>C (p.Thr19857=)
c.59196T>C (p.Thr19732=)
c.86391T>C (p.Thr28797=)
c.81468T>C (p.Thr27156=)
n.447-11559A>G
n.2043+17380A>G
c.85488T>C (p.Thr28496=)
c.59382T>C (p.Thr19794=)
c.59241T>C (p.Thr19747=)
c.85284T>C (p.Thr28428=)
c.80682T>C (p.Thr26894=)
c.80679T>C (p.Thr26893=)
c.77721T>C (p.Thr25907=)
c.59337T>C (p.Thr19779=)
c.80832T>C (p.Thr26944=)
c.80829T>C (p.Thr26943=)
c.80262T>C (p.Thr26754=)
c.77604T>C (p.Thr25868=)
c.77523T>C (p.Thr25841=)
c.59286T>C (p.Thr19762=)
c.49140T>C (p.Thr16380=)
 gnomAD v4

Number of alleles fetched